Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854052
rs137854052
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		GC 0.700 CausalMutation CLINVAR Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. 11112665

2001
dbSNP: rs137854052
rs137854052
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		GC 0.700 CausalMutation CLINVAR Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis. 11520734

2001